Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.D440E

KCNA1

409 papers

RefSeq Summary

This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and ...

Pfam Domains

BTB_2aa 39–130UCSCBTB/POZ domain
Ion_transaa 166–419UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily A member 1

HGNC Previous Symbol

AEMK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000217.3
p.D440E
c.1320C>A
Surrounding Variants
1 paper
NM_000217.3
p.D440E
c.1320C>G
1 paper
NM_000217.3
p.S442T
c.1325G>C
1 paper
NM_000217.3
p.R443G
c.1327C>G
1 paper
NM_000217.3
p.R443C
c.1327C>T
1 paper
NM_000217.3
p.R443H
c.1328G>A
1 paper
NM_000217.3
p.S445G
c.1333A>G
1 paper
NM_000217.3
p.A436P
c.1306G>C
2 papers
NM_000217.3
p.S446A
c.1336T>G
1 paper
NM_000217.3
p.P433R
c.1298C>G
1 paper
NM_000217.3
p.P433S
c.1297C>T
1 paper
NM_000217.3
p.M449T
c.1346T>C
3 papers
NM_000217.3
p.M449I
c.1347G>A
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